Impairment of the melatonin rhythm in children with Sanfilippo syndrome

Guerrero, Juan M.; Pozo, David; Diaz-Rodriguez, J.L.; Martinez-Cruz, Francisco; Vela-Campos, F.

doi:10.1111/j.1600-079x.2005.00294.x

Cited by 32 publications

(23 citation statements)

References 5 publications

(9 reference statements)

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“…In MPS I, Jordan and colleagues demonstrated that the circadian cycle was abnormal in mice relative to heart rate, body temperature and activity [33]. In addition, in MPS III, the circadian production of melatonin seems to be altered, explaining the sleep disorders observed in children [34]. This was confirmed in MPS IIIB mice, where a significant increase in light phase activity was found [35], together with a direct effect of the disorder on the organization and function of the circadian clock in the SCN [36].…”

Section: Discussionmentioning

confidence: 99%

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

Salvalaio

D’Avanzo

Rigon

et al. 2017

IJMS

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Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders, mainly affecting children, sharing the inability to degrade specific endolysosomal substrates. This results in failure of cellular functions in many organs, including brain that in most patients may go through progressive neurodegeneration. In this study, we analyzed the brain of the mouse model for Hunter syndrome, a LSD mostly presenting with neurological involvement. Whole transcriptome analysis of the cerebral cortex and midbrain/diencephalon/hippocampus areas was performed through RNA-seq. Genes known to be involved in several neurological functions showed a significant differential expression in the animal model for the disease compared to wild type. Among the pathways altered in both areas, axon guidance, calcium homeostasis, synapse and neuroactive ligand–receptor interaction, circadian rhythm, neuroinflammation and Wnt signaling were the most significant. Application of RNA sequencing to dissect pathogenic alterations of complex syndromes allows to photograph perturbations, both determining and determined by these disorders, which could simultaneously occur in several metabolic and biochemical pathways. Results also emphasize the common, altered pathways between neurodegenerative disorders affecting elderly and those associated with pediatric diseases of genetic origin, perhaps pointing out a general common course for neurodegeneration, independent from the primary triggering cause.

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Section: Discussionmentioning

confidence: 99%

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

Salvalaio

D’Avanzo

Rigon

et al. 2017

IJMS

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“…11,12,13,14 However, for these conditions, we found minimal information on the efficacy or safety of melatonin treatment in children. In studies of diverse developmental disabilities, individuals with these syndromes were included but syndrome specific findings were not reported.…”

Section: Pharmacologic Studiesmentioning

confidence: 92%

Melatonin Treatment in Children with Developmental Disabilities

Schwichtenberg

Malow

2015

Sleep Medicine Clinics

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Melatonin is commonly recommended to treat sleep problems in children with developmental disabilities. However, relatively few studies document the efficacy and safety of melatonin in pediatric populations with developmental diagnoses. This chapter reviews recent studies of melatonin efficacy across a wide breadth of developmental disabilities. Overall, short treatment trials (1 week to 3 months) of melatonin were associated with a significant decrease in sleep onset latency time for each of the disorders reviewed, with one notable exception, tuberous sclerosis. In general, reported side effects were uncommon and mild in nature. Across disorders, additional research is needed to draw disability-specific conclusions. However, studies to date provide positive support for future trials that include larger groups of children with specific disabilities/syndromes.

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“…The circadian rhythm in MPS III appears to be fragmented, with a phase delayed sleep-wake cycle in some children [77]. Children have higher levels of activity in the early morning and abnormalities in endogenous melatonin production [76–78]. Though the relationship between actigraphic data and daytime behaviour needs to be further examined, actigraphy allows measurement of sleep and circadian rhythm functioning, and may be a useful additional measure in clinical trials.

MPS III has a huge impact on the life of a child and on the broader family and community.

…”

Section: Recommendationsmentioning

confidence: 99%

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Ghosh

Shapiro

Rust

et al. 2017

Orphanet J Rare Dis

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BackgroundMucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of outcome measures and trial endpoints, in order to improve the quality and impact of research in this area.ResultsAn international workshop involving academic researchers, clinical experts and industry groups was held in June 2015, with presentations and discussions on disease pathophysiology, biomarkers, potential therapies and clinical outcome measures. A set of recommendations was subsequently prepared by a working group and reviewed by all delegates. We present a series of 11 recommendations regarding the conduct of clinical research, outcome measures and management of natural history data in Mucopolysaccharidosis type III.ConclusionsImproving the quality of clinical research in Mucopolysaccharidosis type III will require an open, collaborative and systematic approach between academic researchers, clinicians and industry. Natural history data should be published as soon as possible and ideally collated in a central repository. There should be agreement on outcome measures and instruments for evaluation of clinical outcomes to maximise the effectiveness of current and future clinical research.

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Impairment of the melatonin rhythm in children with Sanfilippo syndrome

Cited by 32 publications

References 5 publications

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

Melatonin Treatment in Children with Developmental Disabilities

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

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